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CpoxRbc16
Chemically induced Allele Detail
Nomenclature
Symbol: CpoxRbc16
Name: coproporphyrinogen oxidase; red blood cell mutant 16
MGI ID: MGI:6117774
Synonyms: CpoxW373X, RBC16
Gene: Cpox  Location: Chr16:58670208-58680391 bp, + strand  Genetic Position: Chr16, 34.8 cM, cytoband C1.1
Mutation
origin
Strain of Origin:  Not Specified
Mutation
description
Allele Type:    Chemically induced (ENU) (Null/knockout)
Mutation:    Single point mutation
 
Mutation detailsENU-mutagenesis induced a G to A substitution at position c.1118 in exon 5 predicted to produce a premature stop codon in place of a tryptophan at amino acid 373 (W373X). Quantitative real-time PCR shows a 50% reduction in mRNA expression and Western blot analysis of liver lysates confirmed a similar loss of protein in heterozygotes. (J:244493)
Inheritance:    Dominant
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Cpox Mutation:  20 strains or lines available
References
Original:  J:244493 Conway AJ, et al., A mouse model of hereditary coproporphyria identified in an ENU mutagenesis screen. Dis Model Mech. 2017 Aug 01;10(8):1005-1013
All:  1 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
10/08/2019
MGI 6.14
The Jackson Laboratory